Subependymoma

Title

Other Names:

Subependymal astrocytoma (formerly)

Categories:

Nervous System Diseases; Rare Cancers

Summary Summary

Subependymomas are slow-growing brain tumors that are usually benign. They are most often found in the fourth or lateral ventricles in the brain, but may occur in the spine.^[1]^[2] Symptoms depend on the tumor location.^[3] Some people do not have symptoms, while others may have headaches, changes in vision, and/or difficulty with balance.^[2] These symptoms are thought to be due to obstruction of cerebral spinal fluid (CSF) due to the tumor's location.^[2] Most subependymomas are benign with a low recurrence rate. However, a few progress to anaplastic ependymoma (a faster growing tumor).^[3] The cause of subependymomas is not well understood. Surgery to remove the tumor is often curative.^[2]

Last updated: 4/5/2017

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Autosomal dominant inheritance	-
Ependymoma	-
Glioblastoma	-
Glioblastoma multiforme	-
Somatic mutation	-

Last updated: 9/1/2017

Inheritance Inheritance

In the vast majority of cases, subependymomas develop sporadically; this means that they usually are not inherited and occur in people with no family history of brain tumors. A few familial cases have been reported.^[4]^[5] However, to our knowledge, specific genes known to cause subependymomas have not been identified.

Last updated: 4/5/2017

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Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Subependymoma. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

American Brain Tumor Association
8550 W. Bryn Mawr Ave, Ste 550
Chicago, IL 60631
Toll-free: 800-886-2282
Telephone: 847-827-9910
E-mail: info@abta.org
Website: http://www.abta.org
Brain Tumor Foundation for Children, Inc.
6065 Roswell Road, Suite 505
Atlanta, GA 30328-4015
Telephone: 404-252-4107
E-mail: http://www.braintumorkids.org/web/contactus.asp
Website: http://www.braintumorkids.org
International Brain Tumour Alliance
10 Carrodus Street,
Fraser, ACT, 2615
Australia
E-mail: chair@theibta.org
Website: http://www.theibta.org/
National Brain Tumor Society
124 Watertown St, Suite 2D
Watertown, MA 02472
Toll-free: 800-770-8287
Telephone: 617-924-9997
E-mail: info@braintumor.org
Website: http://www.braintumor.org

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Subependymoma. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I have a son and want to know if my disease is genetic. I have a subependymoma. See answer

Have a question? Contact a GARD Information Specialist.

References References

Kieran MW. Ependymoma. UpToDate. Waltham, MA: UpToDate; December, 2016;
Jain A, Amin AG, Jain P, Burger P, Jallo GI, Lim M, Bettegowda C. Subependymoma: clinical features and surgical outcomes. Neurol Res. September, 2012; 34(7):677-684.
Bi Z, Ren X, Zhang J, Jia W. Clinical, radiological, and pathological features in 43 cases of intracranial subependymoma. J Neurosurg. January, 2015; 122(1):49-60. https://www.ncbi.nlm.nih.gov/pubmed/25361493.
Kurian KM, Jones DT, Marsden F, Openshaw SW, Pearson DM, Ichimura K, Collins VP. Genome-wide analysis of subependymomas shows underlying chromosomal copy number changes involving chromosomes 6, 7, 8 and 14 in a proportion of cases. Brain Pathol. October, 2008; 18(4):469-473.
Converse PJ. GLIOMA SUSCEPTIBILITY 1; GLM1. OMIM. March, 2017; http://omim.org/entry/137800.